Niemann-Pick type C disease (NPC) is a fatal neurodegenerative lysosomal storage disorder resulting in abnormal accumulation of unesterified cholesterol, glycosphingolipids, bis(monoacyl glycerol) phosphate, and other lipids in late endosome/lysosomes (LE/Ly) of many cell types. Two genes, NPC1 and NPC2, have been linked to the NPC defect in humans, and the precise mechanisms of action of these proteins are still under investigation. The incidence is estimated between 1:120,000 and 1:50,000 live births.
Treatment options for NPC are limited. The only drug approved for the treatment of NPC in Europe is Zavesca (Miglustat), which inhibits glycosphingolipid synthesis. This treatment has been shown to stabilize the disease progression, but does not reverse the damaged neurons or promote recovery of lost neurons.